New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe

BACKGROUND: Chronic mucocutaneous candidiasis disease (CMCD) may result from various inborn errors of interleukin (IL)-17-mediated immunity. Twelve of the 13 causal mutations described to date affect the coiled-coil domain (CCD) of STAT1. Several mutations, including R274W in particular, are recurre...

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Detalhes bibliográficos
Main Authors: Soltész, Beáta, Tóth, Beáta, Shabashova, Nadejda, Bondarenko, Anastasia, Okada, Satoshi, Cypowyj, Sophie, Abhyankar, Avinash, Csorba, Gabriella, Taskó, Szilvia, Sarkadi, Adrien Katalin, Méhes, Leonóra, Rozsíval, Pavel, Neumann, David, Chernyshova, Liudmyla, Tulassay, Zsolt, Puel, Anne, Casanova, Jean-Laurent, Sediva, Anna, Litzman, Jiri, Maródi, László
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2013
Assuntos:
Host Defence
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3756505/
https://ncbi.nlm.nih.gov/pubmed/23709754
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2013-101570
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